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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The XO sex chromosome constitution has been found in both sexes of the mole-vole (Ellobius lutescens) belonging to the rodent family Microtinae. This enigmatic species has apparently been enduring a 50% zygotic lethality. The current serological study revealed the presence in XO males and the absence from XO females of H-Y (histocompatibility Y) antigen. In all the mammalian species studied thus far, the expression of H-Y antigen strictly coincided with the presence of testicular tissue and not necessarily with the presence of the Y chromosome. The testis-organizing function of the H-Y gene appears to have been confirmed. In the mole-vole, X linkage of the testis-organizing H-Y gene is favored over its autosomal inheritance. Only X linkage of the H-Y gene creates a compelling evolutionary need to change the female sex chromosome constitution from XX to XO, and to abandon the dosage compensation by an X inactivation mechanism, so that the nonproductive XH-YX zygote can be eliminated as an embryonic lethal. With regard to the electrophoretic mobilities of three X-linked marker enzymes, however, a genetic difference between the male-specific XH-Y and the female-specific X was not detected. This might reflect a relatively recent speciation.
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PMID:Testis-determining H-Y antigen in XO males of the mole-vole (Ellobius lutescens). 86 27

The term epidermal nevus syndrome is not suitable to describe an entity because there are different birth defects associated with epidermal nevi. A new classification is proposed to distinguish three well-defined syndromes, each recognizable by a different type of nevus. The sebaceous nevus syndrome and the Proteus syndrome are most likely due to autosomal lethal mutations and therefore always occur sporadically, whereas the CHILD syndrome can be transmitted from a mother to her daughter as an X-linked dominant, male-lethal trait. Moreover, the nevus comedonicus syndrome can be regarded as an entity closely related to this group of disorders. It may represent another autosomal lethal mutation that survives by mosaicism. In addition, several less well-defined phenotypes associated with epidermal nevi are reviewed. Some of them are regarded as entities in limbo.
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PMID:How many epidermal nevus syndromes exist? A clinicogenetic classification. 160 5

A family affected in two generations with the NAME syndrome is described, and the literature on this phenotype reviewed. The term "NAME" was originally proposed as an acronym for "nevi, atrial myxoma, myxoid neurofibromata and ephelides". However, in order to give a more comprehensive description of this syndrome, we recommend the following alternative interpretation of "NAME": nevi, atrial myxoma, mucinosis of the skin, endocrine overactivity. Previous family observations suggested a dominant, and probably autosomal, inheritance but an X-linked dominant transmission could not be excluded. We describe male-to-male transmission, strongly supporting the concept of the autosomal inheritance of this trait.
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PMID:Autosomal dominant transmission of the NAME syndrome (nevi, atrial myxoma, mucinosis of the skin and endocrine overactivity). 199 86

A 15-year-old girl with the typical signs and symptoms of the CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) is described. Associated ipsilateral anomalies included systematized hypotrichosis, fused vertebrae, hemivertebrae, pelvic hypoplasia and renal agenesis. During a careful inquiry, her mother reported that during her own adolescence she had linear ichthyosiform skin changes localized in 3 different regions of her body. These plaques had disappeared spontaneously in early adulthood, leaving permanent lesions in the form of hairless streaks and a dystrophic fingernail. Hence this is the first report of a mother-to-daughter transmission of this genodermatosis, lending further support to the proposed concept of X-linked dominant inheritance with lethality for male embryos. We conclude that the mother of a girl suffering from the CHILD syndrome cannot be considered to be unaffected unless a meticulous examination of her skin and bones has ruled out even minimal signs of involvement.
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PMID:[CHILD syndrome in a mother and daughter]. 231 40

The observation of a 16-year-old girl born with an ectromelia and an ipsilateral inflammatory verrucous epidermal nevus led us to a synthetic study of 17 similar cases already published since 1927: all these cases concern female patients and are characterized by a unilateral hypoplastic dysplasia, most often of limbs, and inflammatory epidermal hyperplastic lesions described as ichthyosiform, psoriasiform or verrucous, usually distributed on the same side on the skin overlying the dysplastic body areas. The skin lesions may be partly regressive after birth and their histological features are suggestive of inflammatory linear verrucous epidermal nevus (I. L. V. E. N.). These associations may be representative of a special form of Solomon's syndrome whose heterogeneity has be recently emphasized. We propose to subdivide it in 3 forms: the epidermal nevus syndrome (Solomon's syndrome)--the organoid nevus syndrome (Schimmelpenning's syndrome)--the I. L. V. E. N. syndrome, probably X-linked dominant inherited (lethal for hemizygous males), associated with ipsilateral hypoplastic body lesions and, however less frequently than in the epidermal nevus syndrome, with ocular and nervous abnormalities. The distribution of cutaneous lesions has some similarities with the pattern of skin symptoms of X-linked dominant traits such as chondrodysplasia punctata, focal dermal hypoplasia or incontinentia pigmenti. The most typical feature of this syndrome is the strong inflammatory aspect of the epidermal nevus erroneously described in previous cases as unilateral psoriasis or ichthyosiform erythroderma.
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PMID:[Congenital homolateral epidermal hyperplasia and hypoplastic hemidysplasia (splitting of the Solomon's syndrome) (author's transl)]. 744 53

A clinical entity called "the epidermal nevus syndrome" does not exist. Rather, there are various epidermal nevus syndromes that can be distinguished by clinical, histopathological, and genetic criteria. In this review, five distinct epidermal nevus syndromes, recognizable by different types of associated epithelial nevi, are described. The Schimmelpenning syndrome is characterized by a sebaceous nevus associated with cerebral anomalies, coloboma, and lipodermoid of the conjunctiva. By contrast, cataracts are a prominent feature of the nevus comedonicus syndrome. The pigmented hairy epidermal nevus syndrome includes Becker nevus, ipsilateral hypoplasia of the breast, and skeletal defects such as scoliosis. In the Proteus syndrome, the associated epidermal nevus is of a flat, velvety, nonorganoid type. The CHILD syndrome occurs almost exclusively in girls. The associated CHILD nevus shows unique features such as a diffuse form of lateralization, ptychotropism, and microscopic changes of verruciform xanthoma. The five epidermal nevus syndromes differ in their genetic basis. The Schimmelpenning and nevus comedonicus syndromes are most likely nonhereditary traits. By contrast, the pigmented hairy epidermal nevus syndrome and the Proteus syndrome may be explained by paradominant inheritance. The CHILD syndrome is caused by an X-linked dominant mutation exerting a lethal effect on male embryos. A correct diagnosis of these phenotypes is important for both recognition and treatment of associated anomalies as well as for genetic counseling.
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PMID:Epidermal nevus syndromes. 764 Jan 90

CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) occurs, as a rule, exclusively in girls because the underlying X-linked gene exerts a lethal effect on male embryos. In this report the characteristic manifestations of CHILD syndrome are described in a 2-year-old boy with a normal chromosome constitution 46,XY. This exceptional case is best explained by the assumption of an early somatic mutation and thus compatible with the concept of X-linked dominant male-lethal inheritance of this trait.
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PMID:CHILD syndrome in a boy. 888 2

The true nature of nevocellular nevus is still unknown and it has been ambiguously classified as a neoplasm or a hamartoma. We studied the clonality of nevocellular nevus and melanoma (malignant melanoma), using an expression-based clonality analysis at the X-linked genes by means of polymerase chain reaction. DNA was extracted from cryostat sections of 20 nevocellular nevi (10 compound and 10 intradermal type) and five melanomas from female patients. A polymorphic portion of the inactivated X-linked gene was amplified after selective digestion of the active X-chromosome with a methylation-sensitive restriction enzyme, Hpa II. Paternal- and maternal-derived fragments were resolved with electrophoresis using the polymorphic restriction endonuclease (BstX I) site for the phosphoglycerate kinase assay, and using the difference of CAG repeats for the human androgen-receptor gene assay. Both assays revealed that all informative nevocellular nevi were polyclonal in origin and all melanomas were monoclonal. Results of the clonality were independent of either the histologic type of nevocellular nevus or whether the nevocellular nevus was of congenital or acquired origin. Thus, nevocellular nevus, congenital or acquired, may be a hamartomatous rather than a neoplastic lesion. The analysis of clonality could be applied to the differential diagnosis of benign melanocytic disease and melanomas.
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PMID:Clonality in nevocellular nevus and melanoma: an expression-based clonality analysis at the X-linked genes by polymerase chain reaction. 934 95

In mammals, sex determination is controlled by the Y-linked gene SRY. Although SRY is male-specific in most eutherian and marsupial species, with a single copy on the Y chromosome, several rodent species have multiple Y-linked copies of SRY, and two mole-vole species of the genus Ellobius determine sex without the Y chromosome or the SRY gene. We searched for homologs of SRY in three vole species of the genus Microtus and concluded that this gene is not male-specific in M. cabrerae, as it is present in multiple, polymorphic copies in both males and females. In contrast, SRY is male-specific in the related species M. agrestis and M. nivalis. Up to 15 different partial sequences of the SRY gene were found in M. cabrerae. Southern blots suggest that most of the extra copies of SRY are X-linked. One of the copies observed only in males has a sequence identical to that of the SRY gene in M. agrestis and may represent a functional copy of the gene in this species. The rest are probably nonfunctional pseudogenes.
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PMID:Multiple, polymorphic copies of SRY in both males and females of the vole Microtus cabrerae. 960 42

We report on a family of seven affected with a new syndrome of multiple deep schwannomas, multiple nevi (both intradermal and compound types), and multiple leiomyomas of the vagina. Inheritance is dominant, whether autosomal or X-linked cannot be determined at this time. The nevi, which are congenital, appear to be a marker for the syndrome. Both the schwannomas and leiomyomas do not manifest until adulthood.
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PMID:Multiple schwannomas, multiple nevi, and multiple vaginal leiomyomas: a new dominant syndrome. 963 29


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